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A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy

Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting. The 0.5x0.3x0.3 cm axillary skin punch biopsy was subjected to routine h...

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Autores principales: Kımıloğlu, Elife, AKBAŞ, Pelin, Esen Öre, Özgül, Turan, Çağla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Federation of Turkish Pathology Societies 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510617/
https://www.ncbi.nlm.nih.gov/pubmed/33432562
http://dx.doi.org/10.5146/tjpath.2021.01522
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author Kımıloğlu, Elife
AKBAŞ, Pelin
Esen Öre, Özgül
Turan, Çağla
author_facet Kımıloğlu, Elife
AKBAŞ, Pelin
Esen Öre, Özgül
Turan, Çağla
author_sort Kımıloğlu, Elife
collection PubMed
description Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting. The 0.5x0.3x0.3 cm axillary skin punch biopsy was subjected to routine histopathological evaluation. Cytoplasmic PAS-positive inclusion bodies were observed at the basal side of the eccrine and apocrine glands. The diagnosis of Lafora disease can also be made by the observation of the polyglycosan cytoplasmic inclusion bodies in the brain, liver and skeletal muscle biopsies. Although we need more work to understand the etiopathogenesis of Lafora disease, we would like to draw attention to the importance of skin biopsy in the differential diagnosis of young patients with clinically refractory epilepsy, myoclonus, and cognitive decline.
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spelling pubmed-105106172023-09-21 A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy Kımıloğlu, Elife AKBAŞ, Pelin Esen Öre, Özgül Turan, Çağla Turk Patoloji Derg Case Report Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting. The 0.5x0.3x0.3 cm axillary skin punch biopsy was subjected to routine histopathological evaluation. Cytoplasmic PAS-positive inclusion bodies were observed at the basal side of the eccrine and apocrine glands. The diagnosis of Lafora disease can also be made by the observation of the polyglycosan cytoplasmic inclusion bodies in the brain, liver and skeletal muscle biopsies. Although we need more work to understand the etiopathogenesis of Lafora disease, we would like to draw attention to the importance of skin biopsy in the differential diagnosis of young patients with clinically refractory epilepsy, myoclonus, and cognitive decline. Federation of Turkish Pathology Societies 2021-09-15 /pmc/articles/PMC10510617/ /pubmed/33432562 http://dx.doi.org/10.5146/tjpath.2021.01522 Text en Copyright © 2021 The Author(s). https://creativecommons.org/licenses/by/4.0/This is an open-access article published by Federation of Turkish Pathology Societies under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Case Report
Kımıloğlu, Elife
AKBAŞ, Pelin
Esen Öre, Özgül
Turan, Çağla
A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title_full A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title_fullStr A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title_full_unstemmed A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title_short A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy
title_sort case of lafora disease diagnosed by axillary skin biopsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510617/
https://www.ncbi.nlm.nih.gov/pubmed/33432562
http://dx.doi.org/10.5146/tjpath.2021.01522
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